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Entry
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- *114761 - CARBONIC ANHYDRASE VA; CA5A
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- OMIM
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<p>
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<span class="h4">*114761</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#geneFamily">Gene Family</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/114761">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000174990;t=ENST00000649794" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=763" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=114761" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000174990;t=ENST00000649794" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001367225,NM_001739,NR_159798,NR_159799,XM_005256134,XM_047434594,XM_047434595" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001739" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=114761" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=00262&isoform_id=00262_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/CA5A" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/306483,461680,1839365,4096148,4502521,119615777,119615778,187951679,187952273,530424288,1511945718,2217307355,2217307357,2462550625,2462550627" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/P35218" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=763" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000174990;t=ENST00000649794" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=CA5A" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=CA5A" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+763" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/CA5A" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:763" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/763" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr16&hgg_gene=ENST00000649794.3&hgg_start=87881549&hgg_end=87936529&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1377" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:1377" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/ca5a" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=114761[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=114761[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000174990" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=CA5A" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=CA5A" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=CA5A" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=CA5A&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA25992" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:1377" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0027844.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:101946" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/CA5A#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:101946" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/763/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=763" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00000282;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00000282 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00000283;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00000283 </a></div>
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</div>
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<div><a href="https://zfin.org/ZDB-GENE-080220-57" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:763" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=CA5A&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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114761
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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CARBONIC ANHYDRASE VA; CA5A
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
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CARBONIC ANHYDRASE, MITOCHONDRIAL<br />
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CARBONIC ANHYDRASE 5; CA5<br />
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CA V<br />
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CA VA
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=CA5A" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CA5A</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/16/725?start=-3&limit=10&highlight=725">16q24.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr16:87881549-87936529&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">16:87,881,549-87,936,529</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
|
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/16/725?start=-3&limit=10&highlight=725">
|
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16q24.2
|
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</a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Hyperammonemia due to carbonic anhydrase VA deficiency
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/615751"> 615751 </a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/114761" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/114761" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p>The CA5A gene encodes an intramitochondrial carbonic anhydrase, which is pivotal for providing bicarbonate (HCO3-) for multiple mitochondrial enzymes (summary by <a href="#8" class="mim-tip-reference" title="van Karnebeek, C. D., Sly, W. S., Ross, C. J., Salvarinova, R., Yaplito-Lee, J., Santra, S., Shyr, C., Horvath, G. A., Eydoux, P., Lehman, A. M., Bernard, V., Newlove, T., and 14 others. <strong>Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.</strong> Am. J. Hum. Genet. 94: 453-461, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24530203/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24530203</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24530203[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2014.01.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24530203">van Karnebeek et al., 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24530203" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using a mouse cDNA that presumably encoded a mitochondrial carbonic anhydrase, <a href="#6" class="mim-tip-reference" title="Nagao, Y., Platero, J. S., Waheed, A., Sly, W. S. <strong>Human mitochondrial carbonic anhydrase: cDNA cloning, expression, subcellular localization, and mapping to chromosome 16.</strong> Proc. Nat. Acad. Sci. 90: 7623-7627, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8356065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8356065</a>] [<a href="https://doi.org/10.1073/pnas.90.16.7623" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8356065">Nagao et al. (1993)</a> isolated a full-length cDNA clone encoding human CA V from a human liver cDNA library. The N-terminal sequence was determined directly on the 30-kD soluble CA V purified from COS cells transfected with the cDNA. These sequence data indicated that processing of the precursor polypeptide to mature human CA V involves removal of a 38-amino acid mitochondrial leader sequence. <a href="#6" class="mim-tip-reference" title="Nagao, Y., Platero, J. S., Waheed, A., Sly, W. S. <strong>Human mitochondrial carbonic anhydrase: cDNA cloning, expression, subcellular localization, and mapping to chromosome 16.</strong> Proc. Nat. Acad. Sci. 90: 7623-7627, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8356065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8356065</a>] [<a href="https://doi.org/10.1073/pnas.90.16.7623" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8356065">Nagao et al. (1993)</a> found that the 267-amino acid sequence deduced for mature human CA V is 30 to 49% homologous to amino acid sequences of previously characterized human CAs and 76% homologous to the amino acid sequence deduced from the mouse cDNA for CA5. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8356065" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By RT-PCR analysis, <a href="#2" class="mim-tip-reference" title="Fujikawa-Adachi, K., Nishimori, I., Taguchi, T., Onishi, S. <strong>Human mitochondrial carbonic anhydrase VB: cDNA cloning, mRNA expression, subcellular localization, and mapping to chromosome X.</strong> J. Biol. Chem. 274: 21228-21233, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10409679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10409679</a>] [<a href="https://doi.org/10.1074/jbc.274.30.21228" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10409679">Fujikawa-Adachi et al. (1999)</a> detected CA5 in liver only, whereas they detected CA5B (<a href="/entry/300230">300230</a>), another mitochondrial carbonic anhydrase, in pancreas, kidney, salivary glands, and spinal cord, but not in liver. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10409679" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Nagao, Y., Srinivasan, M., Platero, J. S., Svendrowski, M., Waheed, A., Sly, W. S. <strong>Mitochondrial carbonic anhydrase (isozyme V) in mouse and rat: cDNA cloning, expression, subcellular localization, processing, and tissue distribution.</strong> Proc. Nat. Acad. Sci. 91: 10330-10334, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7937950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7937950</a>] [<a href="https://doi.org/10.1073/pnas.91.22.10330" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7937950">Nagao et al. (1994)</a> demonstrated that the homologous mouse and rat cDNAs both expressed the CA activity in transfected COS cells. They identified the N-terminal processing sites that are cleaved to produce the mature 31- and 30-kD forms found in mouse and rat liver. <a href="#3" class="mim-tip-reference" title="Heck, R. W., Tanhauser, S. M., Manda, R., Tu, C., Laipis, P. J., Silverman, D. N. <strong>Catalytic properties of mouse carbonic anhydrase V.</strong> J. Biol. Chem. 269: 24742-24746, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7929150/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7929150</a>]" pmid="7929150">Heck et al. (1994)</a> characterized the kinetic properties of the enzyme expressed in bacteria from murine cDNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7929150+7937950" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Nagao, Y., Batanian, J. R., Clemente, M. F., Sly, W. S. <strong>Genomic organization of the human gene (CA5) and pseudogene for mitochondrial carbonic anhydrase V and their localization to chromosomes 16q and 16p.</strong> Genomics 28: 477-484, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7490083/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7490083</a>] [<a href="https://doi.org/10.1006/geno.1995.1177" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7490083">Nagao et al. (1995)</a> showed that the human CA5 gene contains 7 exons in approximately 50 kb of genomic DNA. The exon/intron boundaries are at positions identical to those of other known CA genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7490083" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By PCR analysis of DNAs from human/rodent somatic cell hybrids, <a href="#6" class="mim-tip-reference" title="Nagao, Y., Platero, J. S., Waheed, A., Sly, W. S. <strong>Human mitochondrial carbonic anhydrase: cDNA cloning, expression, subcellular localization, and mapping to chromosome 16.</strong> Proc. Nat. Acad. Sci. 90: 7623-7627, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8356065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8356065</a>] [<a href="https://doi.org/10.1073/pnas.90.16.7623" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8356065">Nagao et al. (1993)</a> localized the CA5 gene to human chromosome 16, the same chromosome to which CA7 had been mapped. By FISH, <a href="#5" class="mim-tip-reference" title="Nagao, Y., Batanian, J. R., Clemente, M. F., Sly, W. S. <strong>Genomic organization of the human gene (CA5) and pseudogene for mitochondrial carbonic anhydrase V and their localization to chromosomes 16q and 16p.</strong> Genomics 28: 477-484, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7490083/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7490083</a>] [<a href="https://doi.org/10.1006/geno.1995.1177" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7490083">Nagao et al. (1995)</a> mapped the CA5 gene to 16q24.3. They also noted an unprocessed pseudogene containing exons 3-7 and mapped it to 16p12-p11.2. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8356065+7490083" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Lakkis, M. M., Venta, P. J., Tashian, R. E. <strong>Localization of the mitochondrial carbonic anhydrase V gene, Car5, on mouse chromosome 8.</strong> Mammalian Genome 8: 225-226, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9069129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9069129</a>] [<a href="https://doi.org/10.1007/s003359900396" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9069129">Lakkis et al. (1997)</a> demonstrated that the mouse homolog, symbolized Car5, maps to chromosome 8. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9069129" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 4 patients from 3 unrelated families with early-onset hyperammonemia due to carbonic anhydrase VA deficiency (CA5AD; <a href="/entry/615751">615751</a>), <a href="#8" class="mim-tip-reference" title="van Karnebeek, C. D., Sly, W. S., Ross, C. J., Salvarinova, R., Yaplito-Lee, J., Santra, S., Shyr, C., Horvath, G. A., Eydoux, P., Lehman, A. M., Bernard, V., Newlove, T., and 14 others. <strong>Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.</strong> Am. J. Hum. Genet. 94: 453-461, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24530203/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24530203</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24530203[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2014.01.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24530203">van Karnebeek et al. (2014)</a> identified 3 different homozygous mutations in the CA5A gene (<a href="#0001">114761.0001</a>-<a href="#0003">114761.0003</a>), resulting in a loss of enzyme function. The mutation in the first family was found by whole-exome sequencing. The disorder was characterized clinically by acute onset of encephalopathy in infancy or early childhood. Biochemical evaluation showed multiple metabolic abnormalities, including metabolic acidosis and respiratory alkalosis. Other abnormalities included hypoglycemia, increased serum lactate and alanine, and evidence of impaired provision of bicarbonate to essential mitochondrial enzymes. Apart from episodic acute events in early childhood, the disorder showed a relatively benign course. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24530203" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a cohort of 96 patients with early-onset hyperammonemia, <a href="#1" class="mim-tip-reference" title="Diez-Fernandez, C., Rufenacht, V., Santra, S., Lund, A. M., Santer, R., Lindner, M., Tangeraas, T., Unsinn, C., de Lonlay, P., Burlina, A., van Karnebeek, C. D. M., Haberle, J. <strong>Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis.</strong> Genet. Med. 18: 991-1000, 2016. Note: Erratum: Genet. Med. 18: 649 only, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26913920/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26913920</a>] [<a href="https://doi.org/10.1038/gim.2015.201" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26913920">Diez-Fernandez et al. (2016)</a> identified 10 patients with biallelic variants in the CA5A gene. Two unrelated patients carried a glu241-to-lys mutation (E241K; <a href="#0004">114761.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26913920" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs587777316 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777316;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs587777316?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587777316" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs587777316" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 sibs of Belgian Scottish descent with hyperammonemia due to carbonic anhydrase VA deficiency (CA5AD; <a href="/entry/615751">615751</a>), <a href="#8" class="mim-tip-reference" title="van Karnebeek, C. D., Sly, W. S., Ross, C. J., Salvarinova, R., Yaplito-Lee, J., Santra, S., Shyr, C., Horvath, G. A., Eydoux, P., Lehman, A. M., Bernard, V., Newlove, T., and 14 others. <strong>Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.</strong> Am. J. Hum. Genet. 94: 453-461, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24530203/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24530203</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24530203[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2014.01.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24530203">van Karnebeek et al. (2014)</a> identified a homozygous c.697T-C transition in the CA5A gene, resulting in a ser233-to-pro (S233P) substitution at a highly conserved residue near the substrate-binding region. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and was not present in the dbSNP (build 137) or Exome Sequencing Project databases, or in 100 in-house exomes or 10 in-house genomes. In vitro functional expression studies in COS-7 cells showed reduced levels of the mutant protein and about 20% residual activity compared to wildtype. The mutant protein also showed temperature sensitivity, losing almost all its activity at 40 degrees C. The findings were consistent with a loss of enzyme function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24530203" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs147623570 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs147623570;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs147623570?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs147623570" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs147623570" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000114947 OR RCV000483966" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000114947, RCV000483966" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000114947...</a>
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<p>In a boy, born of unrelated Russian parents, with carbonic anhydrase VA deficiency (CA5AD; <a href="/entry/615751">615751</a>), <a href="#8" class="mim-tip-reference" title="van Karnebeek, C. D., Sly, W. S., Ross, C. J., Salvarinova, R., Yaplito-Lee, J., Santra, S., Shyr, C., Horvath, G. A., Eydoux, P., Lehman, A. M., Bernard, V., Newlove, T., and 14 others. <strong>Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.</strong> Am. J. Hum. Genet. 94: 453-461, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24530203/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24530203</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24530203[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2014.01.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24530203">van Karnebeek et al. (2014)</a> identified a synonymous c.555G-A transition in the last base of exon 4 of the CA5A gene, resulting in a splice site alteration and an in-frame deletion of exon 4. The deleted transcript contains 3 critical residues and is predicted to result in significantly impaired enzyme activity or protein misfolding and degradation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24530203" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000114948" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000114948" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000114948</a>
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<p>In a boy, born of consanguineous Pakistani parents (family 3), with carbonic anhydrase VA deficiency (CA5AD; <a href="/entry/615751">615751</a>), <a href="#8" class="mim-tip-reference" title="van Karnebeek, C. D., Sly, W. S., Ross, C. J., Salvarinova, R., Yaplito-Lee, J., Santra, S., Shyr, C., Horvath, G. A., Eydoux, P., Lehman, A. M., Bernard, V., Newlove, T., and 14 others. <strong>Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.</strong> Am. J. Hum. Genet. 94: 453-461, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24530203/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24530203</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24530203[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2014.01.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24530203">van Karnebeek et al. (2014)</a> identified a homozygous 4-kb deletion in the CA5A gene, resulting in the deletion of exon 6. Liver biopsy from the patient showed absence of the CA5A protein. The unaffected parents were heterozygous for the deletion. The homozygous deletion was also found in the patient's older brother who, at age 17 years, reportedly had no major health problems and declined further evaluation. <a href="#8" class="mim-tip-reference" title="van Karnebeek, C. D., Sly, W. S., Ross, C. J., Salvarinova, R., Yaplito-Lee, J., Santra, S., Shyr, C., Horvath, G. A., Eydoux, P., Lehman, A. M., Bernard, V., Newlove, T., and 14 others. <strong>Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.</strong> Am. J. Hum. Genet. 94: 453-461, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24530203/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24530203</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24530203[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2014.01.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24530203">Van Karnebeek et al. (2014)</a> noted the benign clinical course after early childhood in the proband and suggested that the older brother had milder manifestations in childhood or that the condition showed intrafamilial variability, as has been observed in other inborn errors of metabolism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24530203" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Diez-Fernandez, C., Rufenacht, V., Santra, S., Lund, A. M., Santer, R., Lindner, M., Tangeraas, T., Unsinn, C., de Lonlay, P., Burlina, A., van Karnebeek, C. D. M., Haberle, J. <strong>Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis.</strong> Genet. Med. 18: 991-1000, 2016. Note: Erratum: Genet. Med. 18: 649 only, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26913920/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26913920</a>] [<a href="https://doi.org/10.1038/gim.2015.201" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26913920">Diez-Fernandez et al. (2016)</a> identified 5 additional individuals (patients 10-14) with an in-frame deletion of exon 6 (c.619-3420_c.774+502del4078bp, NM_001739.1). Four patients were from Pakistani families, one of which was nonconsanguineous; 1 patient was from a consanguineous Indian Hindu family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26913920" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 2 newborns (patients 7 and 8) with carbonic anhydrase VA deficiency (CA5AD; <a href="/entry/615751">615751</a>) who presented with hyperammonemic crisis at 5 and 4 days of age, respectively, <a href="#1" class="mim-tip-reference" title="Diez-Fernandez, C., Rufenacht, V., Santra, S., Lund, A. M., Santer, R., Lindner, M., Tangeraas, T., Unsinn, C., de Lonlay, P., Burlina, A., van Karnebeek, C. D. M., Haberle, J. <strong>Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis.</strong> Genet. Med. 18: 991-1000, 2016. Note: Erratum: Genet. Med. 18: 649 only, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26913920/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26913920</a>] [<a href="https://doi.org/10.1038/gim.2015.201" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26913920">Diez-Fernandez et al. (2016)</a> reported a G-to-A transition at nucleotide 721 (c.721G-A, NM_001739.1) in exon 6 of the CA5A gene, resulting in a glutamic acid-to-lysine substitution at codon 241 (E241K). Patient 7 was from a consanguineous Bangladeshi family, and patient 8 was from a Pakistani family whose consanguinity was unknown. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26913920" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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Genet. Med. 18: 991-1000, 2016. Note: Erratum: Genet. Med. 18: 649 only, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26913920/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26913920</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26913920" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Human mitochondrial carbonic anhydrase VB: cDNA cloning, mRNA expression, subcellular localization, and mapping to chromosome X.</strong>
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J. Biol. Chem. 274: 21228-21233, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10409679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10409679</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10409679" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.274.30.21228" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Heck1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
|
Heck, R. W., Tanhauser, S. M., Manda, R., Tu, C., Laipis, P. J., Silverman, D. N.
|
|
<strong>Catalytic properties of mouse carbonic anhydrase V.</strong>
|
|
J. Biol. Chem. 269: 24742-24746, 1994.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7929150/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7929150</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7929150" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Lakkis1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lakkis, M. M., Venta, P. J., Tashian, R. E.
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|
<strong>Localization of the mitochondrial carbonic anhydrase V gene, Car5, on mouse chromosome 8.</strong>
|
|
Mammalian Genome 8: 225-226, 1997.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9069129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9069129</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9069129" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s003359900396" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Nagao1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nagao, Y., Batanian, J. R., Clemente, M. F., Sly, W. S.
|
|
<strong>Genomic organization of the human gene (CA5) and pseudogene for mitochondrial carbonic anhydrase V and their localization to chromosomes 16q and 16p.</strong>
|
|
Genomics 28: 477-484, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7490083/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7490083</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7490083" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1995.1177" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Nagao1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nagao, Y., Platero, J. S., Waheed, A., Sly, W. S.
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<strong>Human mitochondrial carbonic anhydrase: cDNA cloning, expression, subcellular localization, and mapping to chromosome 16.</strong>
|
|
Proc. Nat. Acad. Sci. 90: 7623-7627, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8356065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8356065</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8356065" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.90.16.7623" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Nagao1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nagao, Y., Srinivasan, M., Platero, J. S., Svendrowski, M., Waheed, A., Sly, W. S.
|
|
<strong>Mitochondrial carbonic anhydrase (isozyme V) in mouse and rat: cDNA cloning, expression, subcellular localization, processing, and tissue distribution.</strong>
|
|
Proc. Nat. Acad. Sci. 91: 10330-10334, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7937950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7937950</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7937950" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.91.22.10330" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="van Karnebeek2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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van Karnebeek, C. D., Sly, W. S., Ross, C. J., Salvarinova, R., Yaplito-Lee, J., Santra, S., Shyr, C., Horvath, G. A., Eydoux, P., Lehman, A. M., Bernard, V., Newlove, T., and 14 others.
|
|
<strong>Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.</strong>
|
|
Am. J. Hum. Genet. 94: 453-461, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24530203/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24530203</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24530203[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24530203" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2014.01.006" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 09/25/2018
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
|
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Cassandra L. Kniffin - updated : 4/23/2014<br>Paul J. Converse - updated : 3/1/2000<br>Victor A. McKusick - updated : 4/15/1997<br>Alan F. Scott - updated : 9/26/1995
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 12/30/1989
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 04/09/2019
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</span>
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</div>
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</div>
|
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<div class="row collapse" id="mimCollapseEditHistory">
|
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
|
|
alopez : 09/25/2018<br>carol : 08/02/2016<br>carol : 04/24/2014<br>mcolton : 4/23/2014<br>ckniffin : 4/23/2014<br>mcapotos : 4/3/2000<br>mcapotos : 3/27/2000<br>terry : 3/6/2000<br>carol : 3/1/2000<br>joanna : 2/23/2000<br>carol : 9/28/1998<br>joanna : 8/12/1997<br>jenny : 4/15/1997<br>terry : 4/10/1997<br>terry : 4/17/1996<br>mark : 3/7/1996<br>mark : 4/10/1995<br>carol : 9/15/1993<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>supermim : 2/7/1990
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
|
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<span class="mim-font">
|
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<strong>*</strong> 114761
|
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</span>
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</h3>
|
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</div>
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<div>
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<h3>
|
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<span class="mim-font">
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|
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CARBONIC ANHYDRASE VA; CA5A
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</span>
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</h3>
|
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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CARBONIC ANHYDRASE, MITOCHONDRIAL<br />
|
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CARBONIC ANHYDRASE 5; CA5<br />
|
|
CA V<br />
|
|
CA VA
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: CA5A</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
|
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<em>
|
|
Cytogenetic location: 16q24.2
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 16:87,881,549-87,936,529 </span>
|
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</em>
|
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</strong>
|
|
<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
|
|
Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
|
Inheritance
|
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</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
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|
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
|
16q24.2
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
Hyperammonemia due to carbonic anhydrase VA deficiency
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
615751
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
3
|
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</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>TEXT</strong>
|
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</span>
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</h4>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>The CA5A gene encodes an intramitochondrial carbonic anhydrase, which is pivotal for providing bicarbonate (HCO3-) for multiple mitochondrial enzymes (summary by van Karnebeek et al., 2014). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Family</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Carbonic anhydrases (CAs) are a family of zinc metalloenzymes. For background information on the CA family, see 114800.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Using a mouse cDNA that presumably encoded a mitochondrial carbonic anhydrase, Nagao et al. (1993) isolated a full-length cDNA clone encoding human CA V from a human liver cDNA library. The N-terminal sequence was determined directly on the 30-kD soluble CA V purified from COS cells transfected with the cDNA. These sequence data indicated that processing of the precursor polypeptide to mature human CA V involves removal of a 38-amino acid mitochondrial leader sequence. Nagao et al. (1993) found that the 267-amino acid sequence deduced for mature human CA V is 30 to 49% homologous to amino acid sequences of previously characterized human CAs and 76% homologous to the amino acid sequence deduced from the mouse cDNA for CA5. </p><p>By RT-PCR analysis, Fujikawa-Adachi et al. (1999) detected CA5 in liver only, whereas they detected CA5B (300230), another mitochondrial carbonic anhydrase, in pancreas, kidney, salivary glands, and spinal cord, but not in liver. </p><p>Nagao et al. (1994) demonstrated that the homologous mouse and rat cDNAs both expressed the CA activity in transfected COS cells. They identified the N-terminal processing sites that are cleaved to produce the mature 31- and 30-kD forms found in mouse and rat liver. Heck et al. (1994) characterized the kinetic properties of the enzyme expressed in bacteria from murine cDNA. </p>
|
|
</span>
|
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<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
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<span class="mim-text-font">
|
|
<p>Nagao et al. (1995) showed that the human CA5 gene contains 7 exons in approximately 50 kb of genomic DNA. The exon/intron boundaries are at positions identical to those of other known CA genes. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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<span class="mim-text-font">
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<p>By PCR analysis of DNAs from human/rodent somatic cell hybrids, Nagao et al. (1993) localized the CA5 gene to human chromosome 16, the same chromosome to which CA7 had been mapped. By FISH, Nagao et al. (1995) mapped the CA5 gene to 16q24.3. They also noted an unprocessed pseudogene containing exons 3-7 and mapped it to 16p12-p11.2. </p><p>Lakkis et al. (1997) demonstrated that the mouse homolog, symbolized Car5, maps to chromosome 8. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p>In 4 patients from 3 unrelated families with early-onset hyperammonemia due to carbonic anhydrase VA deficiency (CA5AD; 615751), van Karnebeek et al. (2014) identified 3 different homozygous mutations in the CA5A gene (114761.0001-114761.0003), resulting in a loss of enzyme function. The mutation in the first family was found by whole-exome sequencing. The disorder was characterized clinically by acute onset of encephalopathy in infancy or early childhood. Biochemical evaluation showed multiple metabolic abnormalities, including metabolic acidosis and respiratory alkalosis. Other abnormalities included hypoglycemia, increased serum lactate and alanine, and evidence of impaired provision of bicarbonate to essential mitochondrial enzymes. Apart from episodic acute events in early childhood, the disorder showed a relatively benign course. </p><p>In a cohort of 96 patients with early-onset hyperammonemia, Diez-Fernandez et al. (2016) identified 10 patients with biallelic variants in the CA5A gene. Two unrelated patients carried a glu241-to-lys mutation (E241K; 114761.0004). </p>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>4 Selected Examples):</strong>
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</h4>
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<div>
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<p />
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<h4>
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<span class="mim-font">
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<strong>.0001 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO</strong>
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</span>
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</h4>
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</div>
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CA5A, SER233PRO
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<br />
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SNP: rs587777316,
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gnomAD: rs587777316,
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ClinVar: RCV000114946, RCV003126499
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</span>
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<span class="mim-text-font">
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<p>In 2 sibs of Belgian Scottish descent with hyperammonemia due to carbonic anhydrase VA deficiency (CA5AD; 615751), van Karnebeek et al. (2014) identified a homozygous c.697T-C transition in the CA5A gene, resulting in a ser233-to-pro (S233P) substitution at a highly conserved residue near the substrate-binding region. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and was not present in the dbSNP (build 137) or Exome Sequencing Project databases, or in 100 in-house exomes or 10 in-house genomes. In vitro functional expression studies in COS-7 cells showed reduced levels of the mutant protein and about 20% residual activity compared to wildtype. The mutant protein also showed temperature sensitivity, losing almost all its activity at 40 degrees C. The findings were consistent with a loss of enzyme function. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO</strong>
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</span>
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</h4>
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</div>
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CA5A, 555G-A
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<br />
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SNP: rs147623570,
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gnomAD: rs147623570,
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ClinVar: RCV000114947, RCV000483966
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<span class="mim-text-font">
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<p>In a boy, born of unrelated Russian parents, with carbonic anhydrase VA deficiency (CA5AD; 615751), van Karnebeek et al. (2014) identified a synonymous c.555G-A transition in the last base of exon 4 of the CA5A gene, resulting in a splice site alteration and an in-frame deletion of exon 4. The deleted transcript contains 3 critical residues and is predicted to result in significantly impaired enzyme activity or protein misfolding and degradation. </p>
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</span>
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</div>
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<div>
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<br />
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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CA5A, 4-KB DEL
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<br />
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ClinVar: RCV000114948
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a boy, born of consanguineous Pakistani parents (family 3), with carbonic anhydrase VA deficiency (CA5AD; 615751), van Karnebeek et al. (2014) identified a homozygous 4-kb deletion in the CA5A gene, resulting in the deletion of exon 6. Liver biopsy from the patient showed absence of the CA5A protein. The unaffected parents were heterozygous for the deletion. The homozygous deletion was also found in the patient's older brother who, at age 17 years, reportedly had no major health problems and declined further evaluation. Van Karnebeek et al. (2014) noted the benign clinical course after early childhood in the proband and suggested that the older brother had milder manifestations in childhood or that the condition showed intrafamilial variability, as has been observed in other inborn errors of metabolism. </p><p>Diez-Fernandez et al. (2016) identified 5 additional individuals (patients 10-14) with an in-frame deletion of exon 6 (c.619-3420_c.774+502del4078bp, NM_001739.1). Four patients were from Pakistani families, one of which was nonconsanguineous; 1 patient was from a consanguineous Indian Hindu family. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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CA5A, GLU241LYS
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<br />
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SNP: rs563971993,
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gnomAD: rs563971993,
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ClinVar: RCV000440896, RCV000681608
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 newborns (patients 7 and 8) with carbonic anhydrase VA deficiency (CA5AD; 615751) who presented with hyperammonemic crisis at 5 and 4 days of age, respectively, Diez-Fernandez et al. (2016) reported a G-to-A transition at nucleotide 721 (c.721G-A, NM_001739.1) in exon 6 of the CA5A gene, resulting in a glutamic acid-to-lysine substitution at codon 241 (E241K). Patient 7 was from a consanguineous Bangladeshi family, and patient 8 was from a Pakistani family whose consanguinity was unknown. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
|
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Diez-Fernandez, C., Rufenacht, V., Santra, S., Lund, A. M., Santer, R., Lindner, M., Tangeraas, T., Unsinn, C., de Lonlay, P., Burlina, A., van Karnebeek, C. D. M., Haberle, J.
|
|
<strong>Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis.</strong>
|
|
Genet. Med. 18: 991-1000, 2016. Note: Erratum: Genet. Med. 18: 649 only, 2016.
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[PubMed: 26913920]
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[Full Text: https://doi.org/10.1038/gim.2015.201]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Fujikawa-Adachi, K., Nishimori, I., Taguchi, T., Onishi, S.
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<strong>Human mitochondrial carbonic anhydrase VB: cDNA cloning, mRNA expression, subcellular localization, and mapping to chromosome X.</strong>
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J. Biol. Chem. 274: 21228-21233, 1999.
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[PubMed: 10409679]
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[Full Text: https://doi.org/10.1074/jbc.274.30.21228]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Heck, R. W., Tanhauser, S. M., Manda, R., Tu, C., Laipis, P. J., Silverman, D. N.
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<strong>Catalytic properties of mouse carbonic anhydrase V.</strong>
|
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J. Biol. Chem. 269: 24742-24746, 1994.
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[PubMed: 7929150]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lakkis, M. M., Venta, P. J., Tashian, R. E.
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<strong>Localization of the mitochondrial carbonic anhydrase V gene, Car5, on mouse chromosome 8.</strong>
|
|
Mammalian Genome 8: 225-226, 1997.
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[PubMed: 9069129]
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[Full Text: https://doi.org/10.1007/s003359900396]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Nagao, Y., Batanian, J. R., Clemente, M. F., Sly, W. S.
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<strong>Genomic organization of the human gene (CA5) and pseudogene for mitochondrial carbonic anhydrase V and their localization to chromosomes 16q and 16p.</strong>
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Genomics 28: 477-484, 1995.
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[PubMed: 7490083]
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[Full Text: https://doi.org/10.1006/geno.1995.1177]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Nagao, Y., Platero, J. S., Waheed, A., Sly, W. S.
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<strong>Human mitochondrial carbonic anhydrase: cDNA cloning, expression, subcellular localization, and mapping to chromosome 16.</strong>
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Proc. Nat. Acad. Sci. 90: 7623-7627, 1993.
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[PubMed: 8356065]
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[Full Text: https://doi.org/10.1073/pnas.90.16.7623]
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</li>
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<li>
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<p class="mim-text-font">
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Nagao, Y., Srinivasan, M., Platero, J. S., Svendrowski, M., Waheed, A., Sly, W. S.
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<strong>Mitochondrial carbonic anhydrase (isozyme V) in mouse and rat: cDNA cloning, expression, subcellular localization, processing, and tissue distribution.</strong>
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Proc. Nat. Acad. Sci. 91: 10330-10334, 1994.
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[PubMed: 7937950]
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[Full Text: https://doi.org/10.1073/pnas.91.22.10330]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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van Karnebeek, C. D., Sly, W. S., Ross, C. J., Salvarinova, R., Yaplito-Lee, J., Santra, S., Shyr, C., Horvath, G. A., Eydoux, P., Lehman, A. M., Bernard, V., Newlove, T., and 14 others.
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<strong>Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.</strong>
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Am. J. Hum. Genet. 94: 453-461, 2014.
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[PubMed: 24530203]
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[Full Text: https://doi.org/10.1016/j.ajhg.2014.01.006]
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<div>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 09/25/2018<br>Cassandra L. Kniffin - updated : 4/23/2014<br>Paul J. Converse - updated : 3/1/2000<br>Victor A. McKusick - updated : 4/15/1997<br>Alan F. Scott - updated : 9/26/1995
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</span>
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<br />
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 12/30/1989
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Edit History:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 04/09/2019<br>alopez : 09/25/2018<br>carol : 08/02/2016<br>carol : 04/24/2014<br>mcolton : 4/23/2014<br>ckniffin : 4/23/2014<br>mcapotos : 4/3/2000<br>mcapotos : 3/27/2000<br>terry : 3/6/2000<br>carol : 3/1/2000<br>joanna : 2/23/2000<br>carol : 9/28/1998<br>joanna : 8/12/1997<br>jenny : 4/15/1997<br>terry : 4/10/1997<br>terry : 4/17/1996<br>mark : 3/7/1996<br>mark : 4/10/1995<br>carol : 9/15/1993<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>supermim : 2/7/1990
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medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
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OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
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OMIM Donation:
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</h4>
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<p>
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Dear OMIM User,
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<p>
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To ensure long-term funding for the OMIM project, we have diversified
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our revenue stream. We are determined to keep this website freely
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accessible. Unfortunately, it is not free to produce. Expert curators
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review the literature and organize it to facilitate your work. Over 90%
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of the OMIM's operating expenses go to salary support for MD and PhD
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science writers and biocurators. Please join your colleagues by making a
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donation now and again in the future. Donations are an important
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component of our efforts to ensure long-term funding to provide you the
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information that you need at your fingertips.
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<p>
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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